Human beta satellite DNA: genomic organization and sequence definition of a class of highly repetitive tandem DNA

We describe a class of human repetitive DNA, called beta satellite, that, at a most fundamental level, exists as tandem arrays of diverged approximately equal to 68-base-pair monomer repeat units. The monomer units are organized as distinct subsets, each characterized by a multimeric higher-order repeat unit that is tandemly reiterated and represents a recent unit of amplification. We have cloned, characterized, and determined the sequence of two beta satellite higher-order repeat units: one located on chromosome 9, the other on the acrocentric chromosomes (13, 14, 15, 21, and 22) and perhaps other sites in the genome. Analysis by pulsed-field gel electrophoresis reveals that these tandem arrays are localized in large domains (50-300 kilobase pairs) that are marked by restriction fragment length polymorphisms. In total, beta satellite sequences comprise several million base pairs of DNA in the human genome. Analysis of this DNA family should permit insights into the nature of chromosome-specific and nonspecific modes of satellite DNA evolution and provide useful tools for probing the molecular organization and concerted evolution of the acrocentric chromosomes.